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1,705 Possible Causes for Relative Macrocephaly in Childhood, Small Foot

  • Autosomal Recessive Spastic Paraplegia Type 20

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] When present it is found in distal muscles in the lower limbs, usually the small muscles of the foot and tibialis anterior.[jnnp.bmj.com] macrocephaly, triangular face shape, poor feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia, extensor[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 2

    A disorder (OMIM:612164) characterised by neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination. Molecular pathology Caused by defects of STXBP1, which encodes a syntaxin-binding protein thought to play a role in regulating[…][medical-dictionary.thefreedictionary.com]

    Missing: Relative Macrocephaly in Childhood
  • Rothmund Thomson Syndrome

    […] eyeball 0000568 Osteoporosis 0000939 Short foot Short feet Small feet [ more ] 0001773 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palm 0004279[rarediseases.info.nih.gov] Short thumb Short thumbs Small thumbs [ more ] 0009778 Small hand Disproportionately small hands 0200055 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes[rarediseases.info.nih.gov] […] equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Telangiectasia 0001009 Zonular cataract 0010920[rarediseases.info.nih.gov]

    Missing: Relative Macrocephaly in Childhood
  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    Due to its varied and variable phenotypes, Andersen‐Tawil syndrome (ATS) holds a unique place in the field of channelopathies. Patients with ATS typically present with the triad of periodic paralysis, cardiac arrhythmias, and developmental dysmorphisms. Although penetrance of ATS is high, disease expression and[…][doi.org]

    Missing: Relative Macrocephaly in Childhood
  • Rett Syndrome

    Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Neul JL 1 , Kaufmann WE , Glaze DG , Christodoulou J , Clarke AJ , Bahi-Buisson N , Leonard H , Bailey ME , Schanen NC , Zappella M , Renieri A , Huppke P , Percy AK ; RettSearch Consortium . Collaborators (35) Kaufmann W , Neul J , Glaze D , Christodoulou J ,[…][ncbi.nlm.nih.gov]

    Missing: Relative Macrocephaly in Childhood
  • Sanjad-Sakati Syndrome

    foot - Small hand / acromicria - Thin / retracted lips Frequent - Anomalies of teeth and dentition - Enamel anomaly - Repeat respiratory infections Occasional - Anophthalmos[csbg.cnb.csic.es] (very frequent sign) seizures (any type) (very frequent sign) short stature/dwarfism (very frequent sign) small foot (very frequent sign) small hand (very frequent sign) thin[whonamedit.com] Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Small[csbg.cnb.csic.es]

    Missing: Relative Macrocephaly in Childhood
  • Kenny-Caffey Syndrome Type 1

    ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes TBCE (Withdrawn symbols: HRD, KCS, KCS1, pac2 ) Mouse Orthologs Tbce[mousephenotype.org] […] delay as children 0008897 Short foot Short feet Small feet [ more ] 0001773 Small hand Disproportionately small hands 0200055 Stenosis of the medullary cavity of the long[rarediseases.info.nih.gov] Hypertelorism ; Hypocalcemia ; Hypomagnesemia ; Intrauterine growth retardation ; Long clavicles ; Proportionate short stature ; Recurrent bacterial infections ; Seizures ; Short foot[mousephenotype.org]

    Missing: Relative Macrocephaly in Childhood
  • Acrootoocular Syndrome

    Disease definition A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. Summary Epidemiology Only 4 cases have been reported in the literature from 3 inbred sibships. Clinical[…][orpha.net]

    Missing: Relative Macrocephaly in Childhood
  • Prader-Willi Syndrome

    Prader–Willi syndrome is a rare, genetic disorder characterized especially by failure to thrive, short stature, mental retardation, hypotonia, functionally deficient gonads, and obesity. The presentation of Prader-Willi syndrome depends upon the age of the patient. In fetal life: Reduced fetal movements and abnormal[…][symptoma.com]

    Missing: Relative Macrocephaly in Childhood
  • X-linked Intellectual Disability Armfield Type

    Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has material basis in variation in the chromosomal region Xq28. MalaCards based summary : Armfield[…][malacards.org]

    Missing: Relative Macrocephaly in Childhood

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